1. Gene
  2. G3BP1 - G3BP stress granule assembly factor 1 Gene

G3BP1 - G3BP stress granule assembly factor 1 Gene

Homo sapiens

Also known as G3BP; HDH-VIII

Gene ID: 10146 | Gene type: protein coding

About G3BP1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,771,954-151,812,785 (from NCBI)

This gene has 78 transcripts (splice variants), 238 orthologues and 1 paralogue. Ubiquitous expression in lymph node (RPKM 18.3), appendix (RPKM 16.8) and 25 other tissues.

Summary

This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This Enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

G3BP1 Products(2)

mRNA Protein Name
NM_005754.3 NP_005745.1 ras GTPase-activating protein-binding protein 1
NM_198395.2 NP_938405.1 ras GTPase-activating protein-binding protein 1

G3BP1 Protein Structure

NTF2

NTF2: Nuclear transport factor 2 (NTF2) domain (11 - 133)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (342 - 396)

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Protein Preferred Names Protein Names

ras GTPase-activating protein-binding protein 1

ATP-dependent DNA helicase VIII

Related Diseases

Diseases Alias
Chikungunya

Chikungunya Fever

Arbovirus A Chikungunya Type

Chik

Chikv Infection

Ck

Chikungunya Virus Infection

Chikungunya Haemorrhagic Fever

Chikungunya Viral Disease

Chikungunya Mosquito-Borne Viral Fever

Mouth Disease

Mouth Diseases

Mouth Disorders

Multisystem Proteinopathy
Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris G3BP1 VGNC VGNC:41038
Rattus norvegicus G3BP1 RGD RGD:621140
Mus musculus G3BP1 MGD MGI:1351465
Macaca mulatta G3BP1 VGNC VGNC:72810
Felis catus G3BP1 VGNC VGNC:97440
Bos taurus G3BP1 VGNC VGNC:29176